A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3571263



Internal ID18869544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:265970..313392hg38UCSC Ensembl
Innerchr2:265970..313392hg19UCSC Ensembl
Innerchr2:255970..303392hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3847423
hg1947423
hg1847423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011955
Supporting Variants
Samples
Known GenesACP1, FAM150B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3571263
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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